Screening and follow-up of neonatal phenylketonuria in four prefectures of Xinjiang Uygur Autonomous Region
Zhou Shangqin, Chen Xi, Xue Shuyuan, et al
(1. School of Public Health,Xinjiang Medical University, Xinjiang Uygur Autonomous Region, Urumqi 830000, China; 2. Departmentof Child Rehabilitation, Urumqi Maternal and Child Health Care Hospital, Xinjiang Uygur AutonomousRegion, Urumqi 830001, China; 3. Neonatal Disease Screening Center, Urumqi Maternal and Child HealthCare Hospital, Xinjiang Uygur Autonomous Region, Urumqi 830001, China; 4. Department of Science andEducation, Urumqi Maternal and Child Health Care Hospital, Xinjiang Uygur Autonomous Region, Urumqi830001, China; 5. Department of Obstetrics, Urumqi Maternal and Child Health Care Hospital, XinjiangUygur Autonomous Region, Urumqi 830001, China)
Abstract: 【Abstract】 Objective To analyze the screening coverage, recall rate, incidence and follow-up of neonatal phenylketonuria (PKU) in four prefectures of Xinjiang Uygur Autonomous Region. Method A retrospective analysis was made on newborns who born in maternal and child health institutions in Urumqi City, Changji Hui Autonomous Prefecture, Turpan Prefecture and Tacheng Prefecture from January 2010 to December 2020. Plantar-blood samples were collected at 2 to 7 days after birth, and blood concentration of phenylalanine (Phe) was detected by fluorescence method. The positive patients were recalled for further detection to confirm or exclude PKU. All confirmed patients received the low Phe diet and were followed up. Statistical methods performed by χ2 test, trend χ2 test, one-way analysis of variance, LSD test, H test and Tamhane'sT2 method. Result From January 2010 to December 2020, the overall screening coverage rate of PKU was86.14%. In 2017, there were 65 678 births and 62 938 screening cases, which reached the peak in recent11 years, and the screening coverage showed a increasing trend year by year (χ2=77 064.800, P<0.001), ofwhich the diagnosis of mild hyperphenylalaninemia (HPA) was 155 cases, There were 96 cases of PKU, andthe incidence of PKU was 1/5 123. The male to female ratio was 2.10 to 1, the difference was statisticallysignificant (χ2=8.972, P<0.05). According to the actual clinical screening follow-up work, it was dividedinto 3 stages from January 2010 to December 2012, January 2013 to December 2016, and January 2017to December 2020. In these 3 screening stages, the time of genetic diagnosis of PKU was shortened from18.27 (1.20, 81.07) months to 1.13 (0.23, 3.33) month, the difference was statistically significant (H=58.588,P<0.001). Follow-up results showed that the incidence of abnormal intellectual development in PKU children was 4.88% (4/82). Conclusion From January 2010 to December 2020, the neonatal PKU screening coverage in thefour prefectures of Xinjiang Uygur Autonomous Region showed an increasing trend year by year, and since 2019, the screening coverage rate has been higher than the national average level. The prevalence of PKU is higher inmale than that in female. The age of genetic diagnosis of PKU has been advanced to 1-3 months.
2023, Vol. 11 
